L28P (p.Leu28Pro) variant of FANCD2 (Fanconi anemia group D2 protein)
L28P (p.Leu28Pro) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and published literature.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD 3-10032314-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 4.69
- Population evidence available
- Literature evidence available